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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ik
CDG1K ALG1-CDG
608540
OMIM = Online Medalian Inheritance of Men
79327
16p13.3
rare
autosomal recessive
mutation in the gene encoding beta-1,4-mannosyltransferase
symptoms
apnea
ascites
blindness, visual loss, visual impairment
cardiomyopathy
cerebral atrophy
diarrhea
dysmorphism
early death
epilepsy
hepatomegaly (large liver)
hydrops fetalis
hypotonia
microcephaly
onset, fetus
onset, newborn
seizures
splenomegaly (large spleen)
laboratory finding
Coagulopathy/Coagulation factors abnormalblood
beta-1,4-mannosyltransferase decreased activityfibroblasts
Transferrin abnormalserum
IEF of serum transferrin, type 1 pattern abnormalserum
Literature
Griffith OWet al.Excretion of cysteine and gamma-glutamylcysteine moieties in human and experimental animal gamma-glutamyl transpeptidase deficiencyProc Natl Acad Sci U S A7763384-33871980
Citron BAet al.Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemiaAm J Hum Genet530768-7641993
Blau NBarnes I, Dhondt JLInternational database of tetrahydrobiopterin deficienciesJ Inherit Metab Dis1908-141996
Pastore Aet al.Fully automated assay for total homocysteine, cysteine, cysteinylglycine, glutathione, cysteamine, and 2-mercaptopropionylglycine in plasma and urineClin Chem444825-8321998
Thony BHeizmann CW, Mattei MGChromosomal location of two human genes encoding tetrahydrobiopterin-metabolizing enzymes: 6-pyruvoyl-tetrahydropterin synthase maps to 11q22.3-q23.3, and pterin-4-alpha-carbinolamine dehydratase maps to 10q22Genomics192365-3681994